MCID: TRC034
MIFTS: 20

Torch Syndrome malady

Rare diseases category

Aliases & Classifications for Torch Syndrome

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Aliases & Descriptions for Torch Syndrome:

Name: Torch Syndrome 42 61


Classifications:



Summaries for Torch Syndrome

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MalaCards based summary: Torch Syndrome is related to band-like calcification with simplified gyration and polymicrogyria and aicardi-goutieres syndrome. An important gene associated with Torch Syndrome is OCLN (occludin), and among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Cell adhesion molecules (CAMs). The compounds uridine and pseudouridine have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and digestive/alimentary.

Related Diseases for Torch Syndrome

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Graphical network of diseases related to Torch Syndrome:



Diseases related to torch syndrome

Symptoms for Torch Syndrome

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Drugs & Therapeutics for Torch Syndrome

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Drug clinical trials:

Search ClinicalTrials for Torch Syndrome

Search NIH Clinical Center for Torch Syndrome

Genetic Tests for Torch Syndrome

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Anatomical Context for Torch Syndrome

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Animal Models for Torch Syndrome or affiliated genes

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Publications for Torch Syndrome

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Articles related to Torch Syndrome:

idTitleAuthorsYear
1
Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome. (25207129)
2013
2
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). (12833411)
2003
3
Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria. (11226724)
2001
4
TORCH syndrome. (7640200)
1995
5
TORCH syndrome and TORCH screening. (1972489)
1990
6
Charts: the TORCH syndrome revisited. (2922243)
1989
7
The TORCH syndrome: a clinical review. (2985660)
1985
8
The "torch syndrome. (177938)
1976

Variations for Torch Syndrome

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Expression for genes affiliated with Torch Syndrome

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Search GEO for disease gene expression data for Torch Syndrome.

Pathways for genes affiliated with Torch Syndrome

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Pathways related to Torch Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2JAM3, OCLN
29.2JAM3, OCLN
39.2OCLN, JAM3
49.2JAM3, OCLN
59.1COL4A1, JAM3
6
Show member pathways
9.1COL4A1, JAM3
7
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility59
Cytoskeleton remodeling Integrin outside in signaling59
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases59
Cell adhesion Tight junctions59
Development MAG dependent inhibition of neurite outgrowth59
9.1COL4A1, JAM3
8
Show member pathways
8.7COL4A1, JAM3, OCLN

Compounds for genes affiliated with Torch Syndrome

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Torch Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1uridine44 24 1111.3DKC1, TERC
2pseudouridine44 2410.2DKC1, TERC
3rrna449.0DKC1, TERC

GO Terms for genes affiliated with Torch Syndrome

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Cellular components related to Torch Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1tight junctionGO:00059239.2JAM3, OCLN

Biological processes related to Torch Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:00301989.1COL4A1, JAM3

Sources for Torch Syndrome

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet